Fig. 5

Clinical improvement is linked to normalization of expression of CTG-repeat-associated genes. Linear mixed effect models were fitted for each expressed gene, with CBT as a fixed effect, patient as a random effect, and either CTG repeat or compound response as the predictor. p-values for the regression coefficients were estimated via Satterthwaite’s degrees of freedom and considered significant for values smaller than 0.05 after FDR correction. Furthermore, differences in gene expression of blood samples from DM1 patients and controls were calculated based on an external study using a Wilcoxon signed-rank test on normalized, log-transformed gene counts. A Venn diagram illustrating the number of significant genes associated with CTG-repeat length and compound response, as well as their overlap (disease-relevant changes). B For all expressed genes, the regression coefficients of the compound response scores are plotted against the regression coefficients of the CTG-repeat lengths, including their Pearson correlation. For illustrative purposes, the regression coefficients of the CTG repeat have been multiplied by 100. Furthermore, the x-axis has been scaled between −0.25 and 0.25, removing 12 outliers from the figure. Colored in purple are the genes for which both regression coefficients were significant (FDR < 0.05). C For all expressed genes, the compound response effect size is plotted against the DM1 effect size based on an external study comparing blood expression profiles from DM1 patients and controls, including their Pearson correlation [25]. For illustrative purposes, the x-axis has been scaled between −1.5 and 1.5, removing 6 outliers from the figure. Colored in purple are the same 97 genes as in panel B